Hyper-IgD Syndrome (HIDS)

How to pronounce it:

Hyper-Immunoglobin D Syndrome - hy-per im-you-no-glawbin


AiArthritis defines Hyper-IgD Syndrome as:


Hyper IgD syndrome (HIDS) is a rare autoinflammatory disease and can also be known as mevalonate kinase deficiency (MKD). It is caused by a mutation in the mevalonate kinase gene causing a deficiency in the enzyme and resulting in an inflammatory response.


The symptoms of HIDS can begin in early childhood and are episodic meaning that the symptoms are not constant, but may occur from time-to -time and there may be little to no symptoms in between episodes. Genetic counseling may be suggested for affected individuals and their families. The name "Hyper IgD syndrome" comes from historical observations, even though elevated immunoglobulin D levels are not always seen in everyone with this condition.

Symptoms

Symptoms of AiArthritis Diseases Regardless of Diagnosis

Common in All AiArthritis Diseases



  • Periods of worsening symptoms are called flares. A flare can last for hours, days, weeks, or months.
  • Condition improves with activity and exercise and worsens with rest.
  • When inflammation is left uncontrolled due to lack of proper treatment, comorbidities can develop. 70% of patients with chronic, lifelong disease will develop comorbidities, including dual or triple diagnoses.

 “Auto” Symptoms






  • Severe fatigue or exhaustion that may not be helped by caffeine/stimulants and can happen even after a long period of rest.
  • “Brain fog” - or periods of time where thinking gets clouded and it becomes difficult to concentrate.
  • Flu-like symptoms, without having the flu- nausea, muscle weakness, and general malaise.
  • Fever, typically low grade in autoimmune and higher grade in autoinflammatory (% strongly varies per disease).


Reference: Early Symptoms of AiArthritis Study, AiArthritis, 2019.


View Early Symptoms Study

Inflammatory Arthritis Symptoms


  • Severe stiffness in one or more joints, especially in the morning or after sitting for long periods of time. 
  • Episodes of joint pain that may last for hours, days, or even weeks, that can appear and disappear suddenly. Often described as “jumping pain” into different locations.


Typically the joint pain will coincide with one or more “Auto” symptoms and start and stop suddenly - for no apparent reason (which is called a "flare").  Some people will experience all of the above symptoms, others only a few.  If you have any of the arthritis features, and at least one of the “Auto” features, please consult your physician about a referral to a rheumatologist.


Symptoms Often Associated with HIDS:

  • Rash
  • Abdominal pain
  • Swollen lymph nodes
  • Mouth sores
  • Nausea
  • Diarrhea
  • Vomiting
  • Headache
  • Enlarged liver and spleen
  • Cough/inflammation of back of throat
  • Seizures
  • Conjunctivitis & uveitis
  • Colitis
  • Cutaneous vasculitis


What fellow patients want you to know

Do you have HIDS? Let us know what YOU would want those others or those who are not yet diagnosed to know!

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More About Hyper-IgD Syndrome

Diagnosing HIDS

There’s no single definitive test that can confirm a HIDS diagnosis, so rheumatologists look at a combination of physical exams along with a family history of autoimmune or autoinflammatory disease, to determine symptoms. For HIDS, genetic testing is a key component of HIDS diagnosis. A blood sample is taken to analyze the patient's DNA and specifically look for mutations in the mevalonate kinase gene (MVK). The presence of mutations in MVK supports the diagnosis of HIDS. Taking blood tests during fever episodes to evaluate inflammation markers like CRP and ESR can also assist with diagnosis.

Interesting Facts about this Disease

  • Only about 200 cases of HIDS have been reported worldwide
  • Europeans are most commonly affected (specifically Dutch and French)

Other Resources

In an effort to ensure this page has the most accurate and up-to-date information, this page is currently awaiting medical review. Some information is subject to change.


Page Last Updated: 9/1/2023

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